MPS IIIA - Sanfilippo syndrome A

Stable Identifier
R-HSA-2206307
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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MPS IIIA - Sanfilippo syndrome A
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Mucopolysaccharidosis III (MPS III, Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis IIIA (MPS IIIA, Sanfilippo syndrome A, MIM:252900) is a rare, autosomal recessive lysosomal storage disease characterised by severe CNS degeneration in early childhood leading to death between 10 and 20 years of age. A deficiency of the enzyme N-sulphoglucosamine sulphohydrolase (SGSH, MIM:605270), which normally hydrolyses the sulfate group from the terminal N-sulphoglucosamine residue of heparan sulfate (HS), leads to the build-up of HS in cells and tissues and its presence in urine (van de Kamp et al. 1981, Yogalingam & Hopwood 2001, de Ruijter et al. 2011). The gene encoding N-sulfoglucosamine sulfohydrolase, SGSH, was cloned in 1995 (Scott et al.1995) and, later, shown to contain 8 exons spanning approximately 11 kb (Karageorgos et al. 1996).
Literature References
PubMed ID Title Journal Year
7493035 Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

Blanch, L, Morris, CP, Orsborn, A, Guo, XH, Hopwood, JJ, Sutherland, GR, Freeman, C, Scott, HS, Baker, E

Nat Genet 1995
6796310 Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

Niermeijer, MF, van de Kamp, JJ, Giesberts, MA, von Figura, K

Clin Genet 1981
11668611 Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

Hopwood, JJ, Yogalingam, G

Hum Mutat 2001
21235449 Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies

Valstar, MJ, Wijburg, FA, de Ruijter, J

Curr Pharm Biotechnol 2011
8946167 Structure and sequence of the human sulphamidase gene

Weber, B, Anson, DS, Guo, XH, Hopwood, JJ, Karageorgos, LE, Blanch, L, Scott, HS

DNA Res. 1996
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Name Identifier Synonyms
mucopolysaccharidosis III DOID:12801 Sanfilippo's syndrome, SANFILIPPO SYNDROME B, N-sulphoglucosamine sulphohydrolase deficiency, Sanfilippo's syndrome, mucopolysaccharidosis type IIIB, NAGLU DEFICIENCY, mucopolysaccharidosis type IIIA, Mucopolysaccharidosis, MPS-III, Mucopolysaccharidosis, MPS-III-B (disorder), mucopolysaccharidosis III, SANFILIPPO SYNDROME A, N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY, HEPARAN SULFATE SULFATASE DEFICIENCY, mucopolysaccharidosis type III
Authored
Jassal, B  (2012-04-26)
Reviewed
Matos, L  (2012-08-27)
Coutinho, MF  (2012-08-27)
Alves, S  (2012-08-27)
Created
Jassal, B  (2012-04-26)
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